• The Korean Journal of Nuclear Medicine
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• v.14 no.1
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• pp.37-44
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• 1980

The usefulness of single, random measurements of serum FSH and LH in the diagnosis of primary amenorrhea by radioimmunoassay was investigated. The 16 patients were divided into 3 groups by the level of serum FSH and LH. The first group with increased level of serum FSH and LH is five patients, all of these are related to the acquired or congenital abnormality of the ovary. Further studies indicated include buccal smear, chromosome analysis, gynecography and laparosocopy. The second group with normal serum FSH and LH is nine patients, four patients of these are related to the developmental anomaly of the Mullerian duct and five patients are undo etermined origin. Further studies indicated include laparoscopy and gynecography. The third group with decreased serum FSH and normal or decreased serum LH is two patients, one of these is related to the pituitary function, isolated FSH deficiency, the other is undetermined origin. Further studies indicated include the pituitary function test, LH-RH stimulation test, skull radiography. Determination of serum FSH and LH levels does not permit a specific etiologic diagnosis of primary amenorrhea. However the serum levels of FSH and LH can be used to differentiate the principal area of the investigation and can be of assistance in choosing more specific testing procedures.

• Clinical and Experimental Reproductive Medicine
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• v.13 no.2
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• pp.153-159
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• 1986

The high rate of chromosomal abnormalities in patients with primary amenorrhea implies the need for routine screening for chromosomal abnormalities among such patients. This study was designed for the cytogenetic analysis of 236 patients with primary amenorrhea, which was referred to Yonsei University Medical Center, from January, 1, 1974 to December, 31, 1985. The results were as follows: 1. Of the 236 patients, 145 cases (61.4%) showed normal karyotype, and 91 cases (38.6%) showed chromosomal abnormalities. 2. Gonadal dysgenesis was found in 56 cases, consisting of 42 cases, Turner's syndrome, 12 cases, pure gonadal dysgenesis, and 2 cases mixed gonadal dysgenesis. a) Turner's syndrome was found in 42 cases, consisting of 18 cases of 45, X and 24 cases of mosaicism. b) Pure gonadal dysgenesis was found in 12 cases, consisting of 10 cases of 46, XX and 2 cases of 46, XY. c) Mixed gonadal dysgenesis was found in 2 cases, consisting of 1 case of 46, XY and 1 case of 45, X/46, XY. 3. Intersex was found in 80 cases, consisting of 35 cases of 46, XX, and 45 cases of 46, XY. 4. Congenital anomalies of reproductive system was found in 82 cases and all cases were normal karyotype.

• Clinical and Experimental Pediatrics
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• v.64 no.4
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• pp.141-148
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• 2021

There are very scant data on the epidemiology of primary immunodeficiency diseases (PIDs) in Korea. Here we attempted to estimate the PID epidemiology and disease burden in Korea. A systematic review was performed of studies retrieved from the PubMed, KoreaMed, and Google Scholar databases. Studies on PIDs published in Korean or English between January 2001 and November 2018 were analyzed. The number of PID patients and the healthcare costs were estimated from Health Insurance Review and Assessment Service (HIRA) Korea data for 2017. A total of 398 PID patients were identified from 101 reports. Immunodeficiencies affecting cellular and humoral immunity were reported in 11 patients, combined immunodeficiency with associated or syndromic features in 40, predominantly antibody deficiencies in 144, diseases of immune dysregulation in 58, congenital defects of phagocytes in 104, defects in the intrinsic and innate immunity in 1, auto-inflammatory disorders in 4, complement deficiencies in 36, and phenocopies of PID in none. From the HIRA reimbursement data, a total of 1,162 outpatients and 306 inpatients were treated for 8,166 and 6,149 days, respectively. In addition, reimbursement was requested for 8,200 outpatient and 1,090 inpatient cases and $1,924,000 and $4,715,000 were reimbursed in 2017, respectively. This study systematically reviewed published studies on PID and analyzed the national open data system of the HIRA to estimate the disease burden of PID, for the first time in Korea.

• Journal of Korean Neurosurgical Society
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• v.64 no.3
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• pp.386-405
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• 2021

Recent advancements in basic research on the process of secondary neurulation and increased clinical experience with caudal spinal anomalies with associated abnormalities in the surrounding and distal structures shed light on further understanding of the pathoembryogenesis of the lesions and led to the new classification of these dysraphic entities. We summarized the changing concepts of lesions developed from the disordered secondary neurulation shown during the last decade. In addition, we suggested our new pathoembryogenetic explanations for a few entities based on the literature and the data from our previous animal research. Disordered secondary neurulation at each phase of development may cause corresponding lesions, such as failed junction with the primary neural tube (junctional neural tube defect and segmental spinal dysgenesis), dysgenesis or duplication of the caudal cell mass associated with disturbed activity of caudal mesenchymal tissue (caudal agenesis and caudal duplication syndrome), failed ingression of the primitive streak to the caudal cell mass (myelomeningocele), focal limited dorsal neuro-cutaneous nondisjunction (limited dorsal myeloschisis and congenital dermal sinus), neuro-mesenchymal adhesion (lumbosacral lipomatous malformation), and regression failure spectrum of the medullary cord (thickened filum and filar cyst, low-lying conus, retained medullary cord, terminal myelocele and terminal myelocystocele). It seems that almost every anomalous entity of the primary neural tube may occur in the area of secondary neurulation. Furthermore, the close association with the activity of caudal mesenchymal tissue in secondary neurulation involves a wider range of surrounding structures than in primary neurulation. Although the majority of the data are from animals, not from humans and many theories are still conjectural, these changing concepts of normal and disordered secondary neurulation will provoke further advancements in our management strategies as well as in the pathoembryogenetic understanding of anomalous lesions in this area.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.26 no.4
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• pp.201-212
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• 2023

Purpose: The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs. Methods: The demographic, laboratory, and histopathological findings, treatment modality, and outcomes of patients initially admitted to the pediatric gastroenterology/hepatology unit and subsequently diagnosed with PIDs were recorded. Results: The study included 24 patients (58.3% male; median age [range]: 29 [0.5-204] months). Common clinical presentations included chronic diarrhea (n=8), colitis (n=6), acute hepatitis (n=4), and acute liver failure (n=2). The association of autoimmune diseases, development of malignant diseases, and severe progression of viral diseases was observed in 20.8%, 8.3%, and 16.6% of the patients, respectively. Antibody deficiency was predominantly diagnosed in 29.2% of patients, combined immunodeficiency in 20.8%, immune dysregulation in 12.5%, defects in intrinsic and innate immunity in 4.2%, autoinflammatory disorders in 8.3%, and congenital defects of phagocytes in 4.2%. Five patients remained unclassified (20.8%). Conclusion: Patients with PIDs may initially experience gastrointestinal or liver problems. It is recommended that the association of autoimmune or malignant diseases or severe progression of viral diseases provide pediatric gastroenterologists some suspicion of PIDs. After screening using basic laboratory tests, genetic analysis is mandatory for a definitive diagnosis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.2
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• pp.93-97
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• 2014

Purpose: Gastroesophageal reflux in infant is a physiological process. However, surgery is performed in high risk infants with severe gastroesophageal reflux disease (GERD) when medical management fails. This study focuses on efficacy and safety of Nissen fundoplication for GERD in infants under age 12 months. Methods: This study was a retrospective case analysis of 11 neonates and infants under 12 months of age who underwent Nissen fundoplication following a failure of medical treatment between June 2010 and June 2013 at Pusan National University Children's Hospital. The records were reviewed to determine the effect of fundoplication on symptoms and post-operative complications. Results: A total of 11 infants consist of four males and seven females. Mean birth weight was $2,305.5{\pm}558.6g$ (1,390-3,130 g). They had some underlying disease, which are not related with GERD such as congenital heart disease (54.5%), prematurity (45.5%), neurologic disease (18.2%), respiratory disease (18.2%), and other gastrointestinal disease. Mean body weight at surgery was $3,803.6{\pm}1,864.9g$ (1,938.7-5,668.5 g). Mean age at operation was $99.9{\pm}107.6days$ (17-276 days). Duration from operation to full enteral feeding was 10.9 days. Symptoms related GERD disappeared in all patients including one who got reoperation. One infant died of congenital heart disease unrelated to surgery. There were no complications related to fundoplication. Conclusion: Fundoplication is effective and safe treatment in the neonates and infants with severe GERD.

• Clinical and Experimental Pediatrics
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• v.63 no.3
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• Korean Journal of Cleft Lip And Palate
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• v.7 no.1
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• pp.17-24
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• 2004

Cleft lip and palate are most common congenital defomity to affect the orofacial region. Cleft lip and palate are caused by abnormal development of primary and secondary palate. Its causative mechanism is not completely understood, but genetic and environmental factors play important roles. Lots of epidemiologic surveys have been done extensively about incidence, racial influence, sex ratio, parent age, associated syndrome and genetic factors. These researches are useful to dissolve many problems in prevention and treatment of cleft lip and palate. We performed epidemiologic survey of cleft lip and palate who visited the department of Oral and Maxillofacial Surgery, Guro hospital of Korea University from 1995 to 2004.

• Journal of Veterinary Clinics
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• v.24 no.2
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• pp.233-237
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• 2007

A 10-month-old intact male Labrador Retriever dog was referred with the primary complaint of exercise intolerance, especially after vigorous exercise. Physical examination revealed split S1 and grade III/VI diastolic regurgitant murmur at the left apex and base, respectively. ECG finding was normal sinus rhythm at rest, but supraventricular tachycardia with bundle branch blocks after exercise. Thoracic radiography revealed dilated ascending aorta with normal range of cardiac silhouette (VHS 10.2). Echocardiography revealed abnormal valvular structures just above the aortic valvular cusps causing aortic regurgitation with a reduction of left ventricular ejection fraction (LVEF). Based on those findings, the case was diagnosed as congenital aortic regurgitation caused by abnormal valvular structures. The dog was managed with diltiazem and exercise restriction. This is a rare case of aortic deformity in dogs.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.49 no.1
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• pp.21-29
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• 2023

Objectives: Dental or maxillofacial emergencies are uncommon during pregnancy, but if they occur, they are challenging to treat due to potential risks. The mother should not be denied necessary medical or dental care because of pregnancy. The aim of the study is to observe outcomes of pregnancy in patients requiring emergency minor oral surgical procedures during gestation and to determine the safety of the pregnant woman undergoing the procedure and the fetus. Materials and Methods: The study was conducted on 52 pregnant women requiring emergency oral surgical procedures. A standard treatment protocol for treatment of specific entities was followed. Close monitoring and observation were the primary goal of treatment. All patients were followed postoperatively until complete recovery from the surgical procedures and then until birth of the baby. A control group of 52 healthy pregnant patients who did not require oral surgical procedures was considered for statistical analysis. The measurements to calculate observation were fetal loss (spontaneous abortion), preterm birth, low-birth weight, or incidence of any congenital anomalies in the baby and its association with surgical procedures. Results: No fetal loss occurred in any of the cases. However, four patients experienced preterm birth and seven neonates exhibited low birth weights. No congenital abnormalities were discovered. In one instance, a patient who underwent surgery for a mandibular symphysis fracture under general anesthesia in the 31st week of pregnancy experienced labor pain on the fourth postoperative day, requiring an emergency Caesarean section. Conclusion: The results of our study demonstrate that, compared to the control group, minor emergency surgeries performed during pregnancy have no discernible negative effects on the fetus. These procedures can safely be performed by adhering to our described protocols.